Whole Exome Sequencing with Mitochondrial (Mt) DNA Sequencing

What is Whole Exome Sequencing with Mitochondrial DNA Sequencing test?

Whole Exome Sequencing + Mitochondrial DNA Sequencing is a comprehensive genetic test that sequences all protein‑coding regions of the nuclear genome (exome) together with the complete mitochondrial genome to detect disease‑causing variants across both nuclear and mitochondrial DNA. It identifies single‑nucleotide variants, small insertions/deletions, and often exon‑level copy‑number changes in nuclear genes, as well as point variants and deletions in mtDNA, enabling a unified evaluation of heterogeneous genetic disorders.

Why consider Whole Exome Sequencing with Mitochondrial DNA Sequencing test?

• Broad, efficient diagnosis for rare/complex disease: CES surveys all coding genes at once, useful when the phenotype is unclear or genetically heterogeneous, shortening diagnostic odysseys versus sequential single‑gene/panel testing.

• Actionable clinical impact: Findings can direct targeted management, surveillance, and genetic counselling; many labs periodically reanalyse data to capture newly discovered gene–disease links.
• Cost/time advantages vs WGS: WES focuses on exons where most pathogenic variants reside, often providing higher yield per cost and faster analysis than WGS in many clinical scenarios.

Who should get tested for Whole Exome Sequencing with Mitochondrial DNA Sequencing test?

• Patients with suspected genetic disorders after non‑diagnostic prior tests, or when symptoms don’t fit a single gene/panel (e.g., neurodevelopmental delay, epilepsy, cardiomyopathy, metabolic or immunologic conditions, multisystem phenotypes).

• Individuals with early‑onset, severe, or atypical presentations where rapid, comprehensive testing can alter care pathways.
• Cases where sequential testing would be costly/time‑consuming, and a broad first‑line approach is preferred.
• Solo is appropriate when parental samples are unavailable; if feasible, trio testing can help resolve de novo vs inherited variants and slightly increase yield.

More Information about Whole Exome Sequencing with Mitochondrial DNA Sequencing test

OTHER NAMES: Exome Sequencing, Whole Exome Sequencing, WES, Exome with Mitochondrial Genome Sequencing,  WES + mtDNA complete sequencing (trio or singleton)

WES is generally strong for single‑nucleotide variants and small indels in exons, but may miss certain variant types (e.g., some copy‑number/structural variants, mosaicism, mitochondrial variants, poorly covered exons, or noncoding changes), so complementary tests may be needed in specific scenarios.